Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Mutations in the NALCN gene are associated with complex neurodevelopmental disorders like IHPRF and CLIFAHDD.
• These syndromes present with hypotonia, developmental delay, and characteristic facial features.
• Inheritance patterns for NALCN-related disorders can be autosomal recessive or dominant.

Observation:

• A patient presented with hypotonia and apnea, initially suspected to have congenital myasthenic syndrome (CMS).
• Treatment with pyridostigmine was initiated, leading to a reduction in apnea episodes and some psychomotor improvement.
• Subsequent diagnostics excluded CMS and confirmed a diagnosis of CLIFAHDD syndrome.

Findings:

• Pyridostigmine treatment demonstrated a positive clinical effect in a patient with a confirmed NALCN gene mutation causing CLIFAHDD.
• The patient experienced reduced apnea and modest psychomotor progress after pyridostigmine administration.
• This suggests a potential therapeutic benefit of acetylcholinesterase inhibitors in specific NALCN-related conditions.

Implications:

• This case highlights a potential therapeutic avenue for managing symptoms in NALCN-related neurodevelopmental disorders.
• Understanding the mechanism of pyridostigmine's efficacy could lead to improved patient outcomes.
• Further research is warranted to explore the role of pyridostigmine and other treatments in CLIFAHDD syndrome.